Source: CLINVAR ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cortical visual impairment
CUI: C4048268
Disease: Cortical visual impairment
27 0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06 0.700 0
Ectopic Tissue
CUI: C0008519
Disease: Ectopic Tissue
4 0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06 0.700 0
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
49 0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06 0.700 0
Hypoplastic feet
CUI: C1848673
Disease: Hypoplastic feet
21 0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06 0.700 0
Impaired use of nonverbal behaviors
CUI: C4021798
Disease: Impaired use of nonverbal behaviors
5 0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06 0.700 0
Profound global developmental delay
CUI: C3553450
Disease: Profound global developmental delay
19 0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
417 0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06 0.700 0
Sleeplessness
CUI: C0917801
Disease: Sleeplessness
3 0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06 0.700 0
Small hand
CUI: C0575802
Disease: Small hand
31 0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
85 0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06 0.700 0